Canonical Allele Identifier: CA236082

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 191132
• ClinVar RCV Id: RCV000171312 ; RCV003765071
• dbSNP Id: rs786205538
• MyVariant Identifiers: chr2:g.179417404G>A (hg19) ; chr2:g.178552677G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552677G>A , CM000664.2:g.178552677G>A	GRCh38
NC_000002.11:g.179417404G>A , CM000664.1:g.179417404G>A	GRCh37
NC_000002.10:g.179125650G>A	NCBI36
NG_011618.3:g.283126C>T , LRG_391:g.283126C>T
NG_051363.1:g.34851G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.82519C>T (TTN)	ENSP00000343764.6:p.Gln27507Ter
ENST00000342175.11:c.63604C>T (TTN)	ENSP00000340554.6:p.Gln21202Ter
ENST00000359218.10:c.63403C>T (TTN)	ENSP00000352154.5:p.Gln21135Ter
ENST00000342175.10:c.63604C>T (TTN)	ENSP00000340554.6:p.Gln21202Ter
ENST00000342992.10:c.82519C>T (TTN)	ENSP00000343764.6:p.Gln27507Ter
ENST00000359218.9:c.63403C>T (TTN)	ENSP00000352154.5:p.Gln21135Ter
ENST00000460472.6:c.63028C>T (TTN)	ENSP00000434586.1:p.Gln21010Ter
ENST00000589042.5:c.90223C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln30075Ter
ENST00000591111.5:c.85300C>T (TTN)	ENSP00000465570.1:p.Gln28434Ter
ENST00000615779.4:c.85300C>T (TTN)	ENSP00000483597.1:p.Gln28434Ter
NM_001256850.1:c.85300C>T (TTN)	NP_001243779.1:p.Gln28434Ter
NM_001267550.2:c.90223C>T (TTN) MANE Select	NP_001254479.2:p.Gln30075Ter
NM_003319.4:c.63028C>T (TTN)	NP_003310.4:p.Gln21010Ter
NM_133378.4:c.82519C>T (TTN)	NP_596869.4:p.Gln27507Ter
NM_133432.3:c.63403C>T (TTN)	NP_597676.3:p.Gln21135Ter
NM_133437.4:c.63604C>T (TTN)	NP_597681.4:p.Gln21202Ter
NR_038271.1:n.447-18623G>A (TTN-AS1)
NR_038272.1:n.2043+10316G>A (TTN-AS1)
XM_011511729.1:c.89320C>T (TTN)	XP_011510031.1:p.Gln29774Ter
XM_011511730.1:c.63214C>T (TTN)	XP_011510032.1:p.Gln21072Ter
XM_011511731.1:c.63073C>T (TTN)	XP_011510033.1:p.Gln21025Ter
XM_017004819.1:c.89116C>T (TTN)	XP_016860308.1:p.Gln29706Ter
XM_017004820.1:c.84514C>T (TTN)	XP_016860309.1:p.Gln28172Ter
XM_017004821.1:c.84511C>T (TTN)	XP_016860310.1:p.Gln28171Ter
XM_017004822.1:c.81553C>T (TTN)	XP_016860311.1:p.Gln27185Ter
XM_017004823.1:c.63169C>T (TTN)	XP_016860312.1:p.Gln21057Ter
XM_024453094.1:c.84664C>T (TTN)	XP_024308862.1:p.Gln28222Ter
XM_024453095.1:c.84661C>T (TTN)	XP_024308863.1:p.Gln28221Ter
XM_024453096.1:c.84094C>T (TTN)	XP_024308864.1:p.Gln28032Ter
XM_024453097.1:c.81436C>T (TTN)	XP_024308865.1:p.Gln27146Ter
XM_024453098.1:c.81355C>T (TTN)	XP_024308866.1:p.Gln27119Ter
XM_024453099.1:c.63118C>T (TTN)	XP_024308867.1:p.Gln21040Ter
XM_024453100.1:c.52972C>T (TTN)	XP_024308868.1:p.Gln17658Ter